OMIA 001199-30640 : Coat colour, extension in Sciurus carolinensis
McRobie et al. (2014; FEBS Lett) showed "that agouti signalling protein (ASIP) is an inverse agonist to the MC1R-wt but is an agonist to the MC1RΔ24. We conclude that the deletion in the MC1RΔ24 leads to a receptor with a high basal activity which is further activated by ASIP. This is the first report of ASIP acting as an agonist to MC1R".Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC1R||Sciurus carolinensis||-||no genomic information (-..-)||MC1R||Ensembl|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|674||Melanism (black)||MC1R||E^B||deletion, gross (>20)||Naturally occurring variant||MC1RΔ24 allele E^B ["at amino acid positions 87-94"]||2009||19643815|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2014||McRobie, H.R., King, L.M., Fanutti, C., Symmons, M.F., Coussons, P.J. :|
|Agouti signalling protein is an inverse agonist to the wildtype and agonist to the melanic variant of the melanocortin-1 receptor in the grey squirrel (Sciurus carolinensis). FEBS Lett 588:2335-43, 2014. Pubmed reference: 24879893. DOI: 10.1016/j.febslet.2014.05.032.|
|McRobie, H.R., King, L.M., Fanutti, C., Coussons, P.J., Moncrief, N.D., Thomas, A.P. :|
|Melanocortin 1 Receptor (MC1R) Gene Sequence Variation and Melanism in the Gray (Sciurus carolinensis), Fox (Sciurus niger), and Red (Sciurus vulgaris) Squirrel. J Hered :, 2014. Pubmed reference: 24534267. DOI: 10.1093/jhered/esu006.|
|2009||McRobie, H., Thomas, A., Kelly, J. :|
|The genetic basis of melanism in the gray squirrel (Sciurus carolinensis). J Hered 100:709-14, 2009. Pubmed reference: 19643815. DOI: 10.1093/jhered/esp059.|
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